Genetic Testing/Counselling in Ireland

Delboi

I have a 9-month-old son who has congenital Tetralogy of Fallot and Cataracts. Excellent doctors and consultants have treated him for both conditions and he is doing exceptionally well.

My question relates to Genetic testing and counselling in Ireland and best practice. My 9-year-old daughter developed cataracts at age 4, shortly afterwards her mother was diagnosed as having cataracts also.

On the facts, and without any knowledge of genetics, there is a strong genetic link.

I have also come across a condition that results from a deletion on chromosome 22 at q11 (if memory serves and whatever that means).

I am very surprised that no one in the course of treatment of the above has followed up on the genetic link.

So, where can you go for genetic counselling and where can you have a genetic link or cause confirmed.

A slight aside, why is it that case conferences aren't used in Irish hospitals (apart from the obvious overload answer). There seems to be a big gap in terms of best international practice.

MiCr0

just checked
the only place (afaik) that does genetic counvelling in ireland is
our ladys hosiptal in crumlin.

as for the genetic link, it seems that there is one, i'll try find more info/links for ya.

--MiCr0

MiCr0

http://laurus.meriter.com/Library/HealthGuide/IllnessConditions/_showTopic.asp?topic_id=12976&sequence=1

i'm sure that you know it already but
http://laurus.meriter.com/Library/HealthGuide/IllnessConditions/_showTopic.asp?topic_id=12976&sequence=1

Delboi

Thanks for the two posts. Both of which I was unaware of. I haven't come across the Laurashealth bsite before and it is is very comprehensive.

I have come across a good Irish heart site located at Crumlin Hospital, amongst others.

Again - a big thanks

MiCr0

if there's any thing else, just post a msg